Article
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.
eLife - 20 Jul 2021
Rajasekaran Surender, Bupp Caleb P, Leimanis-Laurens Mara, Shukla Ankit, Russell Christopher, Junewick Joseph, Gleason Emily, VanSickle Elizabeth A, Edgerly Yvonne, Wittmann Bryan M, Prokop Jeremy W, Bachmann André S
Abstract excerpt
Background: Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities. We described the therapeutic course for a rare syndrome diagnosed by whole exome sequencing caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC), characterized by neurological deficits...
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